RESUMEN
A 35-year-old man complained of right truncal pain around T7-8 dermatomal distribution and on examination, T7-8 spinal tenderness was observed. Magnetic resonance imaging showed osteolytic mass in T8 vertebral body without structural lesions involving spinal nerve roots. Dermatomal somatosensory evoked potentials (DSEP) were helpful in diagnosis with thoracic radiculopathy. Finally, Langerhans cell histiocytosis was confirmed in bone biopsy. Thoracic radiculopathy can be caused by various etiologies including bone tumor and DSEP is useful supplementary tool for diagnosing thoracic radiculopathy.
RESUMEN
Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. Autosomal dominant LGMD mapped to 7q36.3 has been classified as LGMD type 1D (LGMD1D) in the Human Gene Nomenclature Committee Database. LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases. In the past, the frequency of this disease was uncommon, and this disorder was mainly found in Europe and the United States. However, recently, this disorder has been reported in Asia, including Japan, Korea, and Taiwan. Here, we report on three LGMD1D patients, including one with a novel mutation in DNAJB6, c.298T>A. While two patients complained of limb-girdle weakness, as would be expected, one patient had distal weakness. They had various serum creatine kinase levels. Radiologic findings in one patient showed fatty degeneration and atrophy in the posterior part of distal muscles. Pathologic findings in one of the patients showed rimmed vacuoles. Although LGMD1D is still uncommon in Korea, we discovered three Korean patients with LGMD1D, including one novel mutation in DNAJB6, p.Phe100Ile (c.298T>A).